Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



WHSC1 Gene

protein-coding   GIFtS: 68
GCID: GC04P001840

Wolf-Hirschhorn Syndrome Candidate 1

  See WHSC1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

TryGeneCards Plus

Aliases
Wolf-Hirschhorn Syndrome Candidate 11 2     IL5 Promoter REII Region-Binding Protein2
Nuclear SET Domain-Containing Protein 22 3     Multiple Myeloma SET Domain Containing Protein Type III2
MMSET2 3     Probable Histone-Lysine N-Methyltransferase NSD22
NSD22 3     Trithorax/Ash1-Related Protein 52
TRX52 3     KIAA10903
EC 2.1.1.433 8     Multiple Myeloma SET Domain-Containing Protein3
REIIBP2     Protein Trithorax-53
WHS2     Wolf-Hirschhorn Syndrome Candidate 1 Protein3
Histone-Lysine N-Methyltransferase NSD22     

External Ids:    HGNC: 127661   Entrez Gene: 74682   Ensembl: ENSG000001096857   OMIM: 6029525   UniProtKB: O960283   

Export aliases for WHSC1 gene to outside databases

Previous GC identifers: GC04P001886 GC04M001800 GC04P001834 GC04P001856


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

TryGeneCards Plus

Entrez Gene summary for WHSC1 Gene:
This gene encodes a protein that contains four domains present in other developmental proteins: a PWWP domain, an
HMG box, a SET domain, and a PHD-type zinc finger. It is expressed ubiquitously in early development.
Wolf-Hirschhorn syndrome (WHS) is a malformation syndrome associated with a hemizygous deletion of the distal
short arm of chromosome 4. This gene maps to the 165 kb WHS critical region and has also been involved in the
chromosomal translocation t(4;14)(p16.3;q32.3) in multiple myelomas. Alternative splicing of this gene results in
multiple transcript variants encoding different isoforms. Some transcript variants are nonsense-mediated mRNA
(NMD) decay candidates, hence not represented as reference sequences. (provided by RefSeq, Jul 2008)

GeneCards Summary for WHSC1 Gene:
WHSC1 (Wolf-Hirschhorn syndrome candidate 1) is a protein-coding gene. Diseases associated with WHSC1 include myeloma, and wolf-hirschhorn syndrome. GO annotations related to this gene include chromatin binding and histone-lysine N-methyltransferase activity. An important paralog of this gene is NSD1.

UniProtKB/Swiss-Prot: NSD2_HUMAN, O96028
Function: Histone methyltransferase with histone H3 'Lys-27' (H3K27me) methyltransferase activity. Isoform RE-IIBP
may act as a transcription regulator that binds DNA and suppresses IL5 transcription through HDAC recruitment

Gene Wiki entry for WHSC1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence at NCBI GenBank:
NC_000004.11  NT_006051.19  NC_018915.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the WHSC1 gene promoter:
         STAT1   AML1a   p53   STAT1beta   STAT1alpha   HNF-1A   HNF-1   NF-kappaB1   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidWHSC1 promoter sequence
   Search Chromatin IP Primers for WHSC1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat WHSC1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 4p16.3   Ensembl cytogenetic band:  4p16.3   HGNC cytogenetic band: 4p16.3

WHSC1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
WHSC1 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P001840:  view genomic region     (about GC identifiers)

Start:
1,873,123 bp from pter      End:
1,983,934 bp from pter
Size:
110,812 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: NSD2_HUMAN, O96028 (See protein sequence)
Recommended Name: Histone-lysine N-methyltransferase NSD2  
Size: 1365 amino acids; 152258 Da
Sequence caution: Sequence=BAA83042.2; Type=Erroneous initiation;
Secondary accessions: A2A2T2 A2A2T3 A2A2T4 A7MCZ1 D3DVQ2 O96031 Q4VBY8 Q672J1 Q6IS00 Q86V01
Q9BZB4 Q9UI92 Q9UPR2
Alternative splicing: 7 isoforms:  O96028-1   O96028-2   O96028-3   O96028-4   O96028-5   O96028-6   O96028-7   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for WHSC1: NX_O96028

Explore proteomics data for WHSC1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for WHSC1 (O96028) (see all 7)
     CGKFYHE  ELTFNYN  RFMNHSC  RCPVAYH 


    See WHSC1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (6 alternative transcripts): 
    NP_001035889.1  NP_015627.1  NP_579877.1  NP_579878.1  NP_579889.1  NP_579890.1  

    ENSEMBL proteins: 
     ENSP00000423972   ENSP00000421551   ENSP00000421681   ENSP00000427434   ENSP00000329167  
     ENSP00000399251   ENSP00000308780   ENSP00000372351   ENSP00000425761   ENSP00000422878  
     ENSP00000427516   ENSP00000424482   ENSP00000425094   ENSP00000372344   ENSP00000372347  
     ENSP00000372348   ENSP00000381311   ENSP00000416725  

    WHSC1 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for WHSC1
    OriGene Custom MassSpec
    OriGene Custom Protein Services for WHSC1
    GenScript Custom Purified and Recombinant Proteins Services for WHSC1
    Novus Biologicals WHSC1 Protein
    Novus Biologicals WHSC1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for WHSC1

     
    Search eBioscience for Proteins for WHSC1 

    WHSC1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of WHSC1
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for WHSC1
    Novus Biologicals WHSC1 Antibodies
    Abcam antibodies for WHSC1
    Cloud-Clone Corp. Antibodies for WHSC1
    ThermoFisher Antibodies for WHSC1
    LSBio Antibodies in human, mouse, rat for WHSC1

    WHSC1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for WHSC1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for WHSC1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for WHSC1
    Cloud-Clone Corp. CLIAs for WHSC1
    Search eBioscience for ELISAs for WHSC1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus
    HGNC Gene Families:
    PHF: Zinc fingers, PHD-type

    Selected InterPro protein domains (see all 11):
     IPR001214 SET_dom
     IPR001841 Znf_RING
     IPR001965 Znf_PHD
     IPR003616 Post-SET_dom
     IPR013083 Znf_RING/FYVE/PHD

    Graphical View of Domain Structure for InterPro Entry O96028

    ProtoNet protein and cluster: O96028

    4 Blocks protein domains:
    IPB000313 PWWP domain
    IPB001214 Nuclear protein SET
    IPB001841 Zn-finger
    IPB003616 SET-related region


    UniProtKB/Swiss-Prot: NSD2_HUMAN, O96028
    Similarity: Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine
    methyltransferase family. SET2 subfamily
    Similarity: Contains 1 AWS domain
    Similarity: Contains 1 HMG box DNA-binding domain
    Similarity: Contains 4 PHD-type zinc fingers
    Similarity: Contains 1 post-SET domain
    Similarity: Contains 2 PWWP domains
    Similarity: Contains 1 SET domain


    Find genes that share domains with WHSC1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NSD2_HUMAN, O96028
    Function: Histone methyltransferase with histone H3 'Lys-27' (H3K27me) methyltransferase activity. Isoform RE-IIBP
    may act as a transcription regulator that binds DNA and suppresses IL5 transcription through HDAC recruitment
    Catalytic activity: S-adenosyl-L-methionine + L-lysine-[histone] = S-adenosyl-L-homocysteine +
    N(6)-methyl-L-lysine-[histone]

         Genatlas biochemistry entry for WHSC1:
    Wolf-Hirschhorn syndrome candidate gene 1,ubiquitously expressed and undergoing complex alternative splicing and
    differential polyadenylation homolog to Drosophila dysmorphy gene ash,fused to IgH in multiple myeloma with
    translocation t(4;14)((p16.3;q32) with FGFR3 overexpression

         Enzyme Number (IUBMB): EC 2.1.1.431 2

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0003682chromatin binding IEA--
    GO:0005515protein binding IPI19481544
    GO:0008270zinc ion binding IEA--
    GO:0018024histone-lysine N-methyltransferase activity IEA--
         
    Find genes that share ontologies with WHSC1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for WHSC1:
     Increased cell death HMECs cel 

         6 MGI mutant phenotypes (inferred from 1 allele(MGI details for Whsc1):
     cardiovascular system  craniofacial  digestive/alimentary  growth/size/body  mortality/aging 
     skeleton 

    Find genes that share phenotypes with WHSC1           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for WHSC1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for WHSC1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for WHSC1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for WHSC1

    miRNA
    Products:
        
    miRTarBase miRNAs that target WHSC1:
    hsa-mir-324-5p (MIRT043035), hsa-mir-215-5p (MIRT024330), hsa-mir-615-3p (MIRT040294), hsa-mir-92a-3p (MIRT049392), hsa-mir-21-5p (MIRT030752), hsa-mir-192-5p (MIRT026347), hsa-mir-423-3p (MIRT042600), hsa-mir-339-5p (MIRT042763), hsa-mir-193b-3p (MIRT016397)

    Block miRNA regulation of human, mouse, rat WHSC1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate WHSC1 (see all 137):
    hsa-miR-194* hsa-miR-106a hsa-miR-605 hsa-miR-519a hsa-miR-3916 hsa-miR-4275 hsa-miR-3622b-3p hsa-miR-877
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for WHSC1
    Predesigned siRNA for gene silencing in human, mouse, rat WHSC1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for WHSC1

    Clone
    Products:
         
    OriGene clones in human, mouse for WHSC1 (see all 34)
    OriGene ORF clones in mouse, rat for WHSC1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 6): WHSC1 (NM_001042424)
    Sino Biological Human cDNA Clone for WHSC1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for WHSC1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat WHSC1

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for WHSC1
    Browse ESI BIO Cell Lines and PureStem Progenitors for WHSC1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for WHSC1

    Flow Cytometry
    Products:
       

     
    eBioscience FlowRNA Probe Sets ( VA1-12973 VA4-12972) for WHSC1 


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    NSD2_HUMAN, O96028: Nucleus. Chromosome (Potential)
    NSD2_HUMAN, O96028: Isoform 4: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2
    extracellular1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005694chromosome IEA--
    GO:0005730nucleolus IDA--
    GO:0005737cytoplasm IEA--
    GO:0031965nuclear membrane IDA--

    Find genes that share ontologies with WHSC1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
    About This Section

    TryGeneCards Plus

    SuperPaths for WHSC1 About    
    See pathways by source

    SuperPathContained pathways About
    1Transcriptional misregulation in cancer
    Transcriptional misregulation in cancer
    2Lysine degradation
    Lysine degradation


    Find genes that share SuperPaths with WHSC1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways




    2 Kegg Pathways  (Kegg details for WHSC1):
        Lysine degradation
    Transcriptional misregulation in cancer

        Pathway & Disease-focused RT2 Profiler PCR Arrays including WHSC1: 
              Epigenetic Chromatin Modification Enzymes in human mouse rat
              Ubiquitin Ligases in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for WHSC1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 19)

    Selected Interacting proteins for WHSC1 (O960281, 2, 3 ENSP000003291674) via UniProtKB, MINT, STRING, and/or I2D (see all 21)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ARP102751, 2, 3, ENSP000003638224EBI-2693298,EBI-608057 MINT-7103766 MINT-7103800 MINT-7103785 MINT-7103819 MINT-7103748 I2D: score=2 STRING: ENSP00000363822
    SIN3BO751823, ENSP000003691314I2D: score=1 STRING: ENSP00000369131
    HDAC1Q135473, ENSP000003626494I2D: score=1 STRING: ENSP00000362649
    HDAC2Q927693, ENSP000003813314I2D: score=1 STRING: ENSP00000381331
    KDM1AO603413, ENSP000003490494I2D: score=1 STRING: ENSP00000349049
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IEA--
    GO:0003149membranous septum morphogenesis IEA--
    GO:0003289atrial septum primum morphogenesis IEA--
    GO:0003290atrial septum secundum morphogenesis IEA--
    GO:0006351transcription, DNA-templated IEA--

    Find genes that share ontologies with WHSC1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for WHSC1 (NSD2)

    3 HMDB Compounds for WHSC1    About this table
    CompoundSynonyms CAS #PubMed Ids
    L-Lysine(+)-S-Lysine (see all 25)56-87-1--
    S-Adenosylhomocysteine(S)-5'-(S)-(3-Amino-3-carboxypropyl)-5'-thioadenosine (see all 19)979-92-0--
    S-Adenosylmethionine(3S)-5'-[(3-amino-3-carboxypropyl)methylsulfonio]-5'-deoxyadenosine (see all 16)29908-03-0--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for WHSC1 gene (10 alternative transcripts): 
    NM_001042424.2  NM_007331.1  NM_133330.2  NM_133331.2  NM_133334.2  NM_133335.3  NM_014919.1  NM_133332.1  
    NM_133333.1  NM_133336.2  

    Unigene Cluster for WHSC1:

    Wolf-Hirschhorn syndrome candidate 1
    Hs.113876  [show with all ESTs]
    Unigene Representative Sequence: NM_133334
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 27):
    ENST00000508803 ENST00000507820 ENST00000508355(uc003gdx.3) ENST00000514045
    ENST00000515806 ENST00000353275(uc003geb.4 uc003gee.4) ENST00000420906(uc003gdy.1 uc003gea.1)
    ENST00000312087(uc003gef.4) ENST00000382895(uc003gdz.4 uc003gei.4 uc011bvh.2 uc010icf.3)
    ENST00000503128(uc010ice.1) ENST00000509115 ENST00000512700 ENST00000511904
    ENST00000513726 ENST00000482415 ENST00000514329 ENST00000502425 ENST00000505643

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat WHSC1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate WHSC1 (see all 137):
    hsa-miR-194* hsa-miR-106a hsa-miR-605 hsa-miR-519a hsa-miR-3916 hsa-miR-4275 hsa-miR-3622b-3p hsa-miR-877
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for WHSC1
    Predesigned siRNA for gene silencing in human, mouse, rat WHSC1
    Clone
    Products:
         
    OriGene clones in human, mouse for WHSC1 (see all 34)
    OriGene ORF clones in mouse, rat for WHSC1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 6): WHSC1 (NM_001042424)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for WHSC1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat WHSC1
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for WHSC1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat WHSC1
      QuantiTect SYBR Green Assays in human, mouse, rat WHSC1
      QuantiFast Probe-based Assays in human, mouse, rat WHSC1
    Flow Cytometry
    Products:
       

     
    eBioscience FlowRNA Probe Sets ( VA1-12973 VA4-12972) for WHSC1 

    Additional mRNA sequence: 

    AB029013.1 AF071593.1 AF071594.1 AF083386.1 AF083387.1 AF083388.1 AF083391.1 AF330040.1 
    AJ007042.1 AK026939.1 AK289697.1 AY694128.1 BC020545.1 BC032731.2 BC052254.1 BC070176.1 
    BC094825.1 BC110899.1 BC141815.1 BC144464.1 BC152412.1 BX647495.1 DQ185035.1 

    Selected DOTS entries (see all 29):

    DT.95348991  DT.92449827  DT.103476  DT.100820941  DT.101982246  DT.100030996  DT.92056183  DT.92449828 
    DT.453320  DT.101957456  DT.121259750  DT.97802080  DT.40221326  DT.92449822  DT.100670240  DT.91953338 
    DT.95282891  DT.444543  DT.97851007  DT.121259837  DT.420222  DT.97775610  DT.99963718  DT.100803448 

    Selected AceView cDNA sequences (see all 567):

    BE858478 BM461838 AL079673 AA829865 AW505350 BQ058398 BM806881 AF083391 
    AA641782 BU622122 BQ187109 CB850697 BQ438235 AI470028 H66277 BE297290 
    NM_133335 AI831869 BM693412 T07860 AL079674 AW189244 AA809848 AW016293 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for WHSC1 (see all 22)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c · 7d ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11a · 11b · 11c ^ 12 ^ 13 ^ 14 ^ 15a · 15b · 15c ^ 16a · 16b ·
    SP1:                                                                          -     -                       -                       -                       -   
    SP2:                                                                          -     -                       -                       -                           
    SP3:                                                                          -     -                       -                       -                 -     -   
    SP4:                          -                                               -     -                       -                       -                 -     -   
    SP5:                                                                                                                                                  -     -   

    ExUns: 16c · 16d ^ 17a · 17b ^ 18a · 18b · 18c · 18d · 18e ^ 19a · 19b ^ 20a · 20b ^ 21 ^ 22a · 22b ^ 23a · 23b ^ 24a · 24b ^ 25a · 25b ^ 26 ^ 27 ^ 28a · 28b ^
    SP1:  -     -     -           -                 -     -     -     -                 -                 -                                               -         
    SP2:  -     -     -           -                 -     -     -     -                 -                 -                                               -         
    SP3:  -     -     -           -                 -     -     -     -                 -                 -                                               -         
    SP4:  -     -     -           -                 -     -     -     -                 -                 -                                               -         
    SP5:  -     -     -           -                 -     -     -     -                 -                 -                                               -         

    ExUns: 29a · 29b ^ 30 ^ 31a · 31b · 31c
    SP1:        -                           
    SP2:        -                           
    SP3:        -                           
    SP4:        -                           
    SP5:        -                           


    ECgene alternative splicing isoforms for WHSC1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TryGeneCards Plus

    WHSC1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCTGGCTGGG
    WHSC1 Expression
    About this image


    WHSC1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Heart (Cardiovascular System)
             Outflow Tract
     
     Thymus (Hematopoietic System)
             Double Negative 2 Thymocytes Thymus
     
     Kidney (Urinary System)
             Metanephros
     
     Blood (Cardiovascular System)
             Double Negative 2 Thymocytes Thymus
    WHSC1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    WHSC1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.113876

    UniProtKB/Swiss-Prot: NSD2_HUMAN, O96028
    Tissue specificity: Widely expressed

        Pathway & Disease-focused RT2 Profiler PCR Arrays including WHSC1: 
              Epigenetic Chromatin Modification Enzymes in human mouse rat
              Ubiquitin Ligases in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for WHSC1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat WHSC1
    QuantiTect SYBR Green Assays in human, mouse, rat WHSC1
    QuantiFast Probe-based Assays in human, mouse, rat WHSC1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for WHSC1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    TryGeneCards Plus

    This gene was present in the common ancestor of animals.

    Orthologs for WHSC1 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Whsc11 , 5 Wolf-Hirschhorn syndrome candidate 1 (human)1, 5 87.39(n)1
    91.33(a)1
      5 (17.83 cM)5
    1078231  NM_001081102.21  NP_001074571.21 
     338207255 
    chicken
    (Gallus gallus)
    Aves WHSC11 Wolf-Hirschhorn syndrome candidate 1 76.93(n)
    81.32(a)
      422897  XM_420839.4  XP_420839.3 
    lizard
    (Anolis carolinensis)
    Reptilia WHSC16
    Wolf-Hirschhorn syndrome candidate 1
    74(a)
    1 ↔ 1
    GL343297.1(48655-125580)
    African clawed frog
    (Xenopus laevis)
    Amphibia CA974710.12   -- 76.66(n)    CA974710.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufc12c042 Transcribed sequence with weak similarity to protein more 78.51(n)    CK025173.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Mes-46
    Mes-4
    23(a)
    1 → many
    3R(23758704-23763571)
    worm
    (Caenorhabditis elegans)
    Secernentea set-236
    Protein SET-23, isoform a
    33(a)
    many ↔ many
    IV(1602985-1605561) WBGene00021515


    ENSEMBL Gene Tree for WHSC1 (if available)
    TreeFam Gene Tree for WHSC1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
    Paralogs for WHSC1 gene
    NSD12  ASH1L2  WHSC1L12  SUV39H22  SETBP12  SETDB22  SUV39H12  SETD22  
    EHMT12  EHMT22  SETMAR2  SETDB12  
    5 SIMAP similar genes for WHSC1 using alignment to 8 protein entries:     NSD2_HUMAN (see all proteins):
    DKFZp666C163    NSD1    AIRE    WHSC1L1    MSH6

    Find genes that share paralogs with WHSC1           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for WHSC1
    PGOHUM00000250473


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

    TryGeneCards Plus

    Selected SNPs for WHSC1 (see all 2308)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1511267911,2
    C,Funtested11901611(+) CACCCC/TGACAT 12 P syn11Minor allele frequency- T:0.00NA 4532
    rs1848891241,2
    --1852701(+) GGTCTC/TGAACT 1 -- us2k10--------
    rs1897359691,2
    --1852702(+) GTCTCA/GAACTC 1 -- us2k10--------
    rs1163557851,2
    --1852828(+) GAGACA/GAGGTC 1 -- us2k10--------
    rs1156842561,2
    C,F--1853041(+) TTTGTC/TGAAAA 1 -- us2k11Minor allele frequency- T:0.08WA 118
    rs1923859911,2
    --1853100(+) CATTAC/TGTGGT 1 -- us2k10--------
    rs1446087951,2
    C--1853126(+) CTATTC/GTGTTC 1 -- us2k10--------
    rs1484704411,2
    C--1853169(+) CACAAC/TGTCTC 1 -- us2k10--------
    rs1162477321,2
    F--1853382(+) ATAGCC/GCGGGT 1 -- us2k11Minor allele frequency- G:0.05WA 118
    rs1834908711,2
    --1853425(+) CTCTCA/GCCAGG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for WHSC1 (1873123 - 1983934 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for WHSC1 (see all 11):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2726833CNV Deletion23290073
    esv2726834CNV Deletion23290073
    esv27096CNV Loss19812545
    nsv829836CNV Loss17160897
    dgv5416n71CNV Loss21882294
    nsv878419CNV Loss21882294
    nsv822437CNV Loss20364138
    nsv878328CNV Loss21882294
    dgv5408n71CNV Loss21882294
    nsv878418CNV Loss21882294

    Human Gene Mutation Database (HGMD): WHSC1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing WHSC1
    DNA2.0 Custom Variant and Variant Library Synthesis for WHSC1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TryGeneCards Plus
    OMIM gene information: 602952    OMIM disorders: --

    UniProtKB/Swiss-Prot: NSD2_HUMAN, O96028
  • Note=A chromosomal aberration involving WHSC1 is a cause of multiple myeloma tumors. Translocation
    t(4;14)(p16.3;q32.3) with IgH
  • Note=WHSC1 is located in the Wolf-Hirschhorn syndrome (WHS) critical region. WHS results from by
    sub-telomeric deletions in the short arm of chromosome 4. WHSC1 is deleted in every case, however deletion of
    linked genes contributes to both the severity of the core characteristics and the presence of the additional
    syndromic problems

  • 3 diseases for WHSC1:    
    About MalaCards
    myeloma    wolf-hirschhorn syndrome    multiple myeloma

    2 diseases from the University of Copenhagen DISEASES database for WHSC1:
    Wolf-Hirschhorn syndrome     Multiple myeloma

    Find genes that share disorders with WHSC1           About GenesLikeMe

    3 Novoseek inferred disease relationships for WHSC1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    myeloma 66.9 7 15355895 (2), 9787135 (1), 18172012 (1), 14633785 (1) (see all 5)
    tumors 19.2 20 19121287 (6), 18381641 (1), 16155016 (1), 11418483 (1) (see all 7)
    cancer 0 10 19121287 (5)

    Genetic Association Database (GAD): WHSC1
    Human Genome Epidemiology (HuGE) Navigator: WHSC1 (2 documents)

    Export disorders for WHSC1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    TryGeneCards Plus

    PubMed articles for WHSC1 gene, integrated from 10 sources (see all 83):
    (articles sorted by number of sources associating them with WHSC1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The t(4;14) translocation in myeloma dysregulates both FGFR3 and a novel gene, MMSET, resulting in IgH/MMSET hybrid transcripts. (PubMed id 9787135)1, 2, 3, 9 Chesi M....Bergsagel P.L. (Blood 1998)
    2. WHSC1, a 90 kb SET domain-containing gene, expressed in early development and homologous to a Drosophila dysmorphy gene maps in the Wolf-Hirschhorn syndrome critical region and is fused to IgH in t(4;14) multiple myeloma. (PubMed id 9618163)1, 2, 3, 9 Stec I.... den Dunnen J.T. (Hum. Mol. Genet. 1998)
    3. Multiple-myeloma-related WHSC1/MMSET isoform RE-IIBP is a histone methyltransferase with transcriptional repression activity. (PubMed id 18172012)1, 2, 9 Kim J.Y.... Seo S.B. (Mol. Cell. Biol. 2008)
    4. A unique mRNA initiated within a middle intron of WHSC1/MMSET encodes a DNA binding protein that suppresses human IL-5 transcription. (PubMed id 11152655)1, 2, 9 Garlisi C.G.... Umland S.P. (Am. J. Respir. Cell Mol. Biol. 2001)
    5. The etiology of Wolf-Hirschhorn syndrome. (PubMed id 15734578)1, 2, 9 Bergemann A.D.... Hirschhorn K. (Trends Genet. 2005)
    6. Transcription repression activity is associated with the type I isoform of the MMSET gene involved in t(4;14) in multiple myeloma. (PubMed id 16197452)1, 2, 9 Todoerti K.... Neri A. (Br. J. Haematol. 2005)
    7. Overexpression of transcripts originating from the MMSET locus characterizes all t(4;14)(p16;q32)-positive multiple myeloma patients. (PubMed id 15677557)1, 2, 9 Keats J.J....Pilarski L.M. (Blood 2005)
    8. A subset of multiple myeloma harboring the t(4;14)(p16;q32) translocation lacks FGFR3 expression but maintains an IGH/MMSET fusion transcript. (PubMed id 12433679)1, 2, 9 Santra M.... Shaughnessy J. Jr. (Blood 2003)
    9. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PubMed id 20634891)1, 4 Jugessur A....Murray J.C. (PLoS ONE 2010)
    10. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 7468 HGNC: 12766 AceView: WHSC1 Ensembl:ENSG00000109685 euGenes: HUgn7468
    ECgene: WHSC1 Kegg: 7468 H-InvDB: WHSC1

    (According to HUGE)
    About This Section

    TryGeneCards Plus
    HUGE: KIAA1090

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for WHSC1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for WHSC1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for WHSC1 gene:
    Search GeneIP for patents involving WHSC1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     Browse Small Molecules at EMD Millipore
     EMD Millipore Mono- and Polyclonal Antibodies for the study of WHSC1
     Browse Kits and Assays available from EMD Millipore
     Browse Purified and Recombinant Proteins at EMD Millipore
     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for WHSC1  
     Browse OriGene qPCR primer pairs and template standards   OriGene Protein Over-expression Lysate for WHSC1  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for WHSC1  
     OriGene qSTAR qPCR primer pairs in human, mouse for WHSC1   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for WHSC1   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for WHSC1   OriGene Custom Protein Services for WHSC1  

     
     
     Block miRNA regulation of human, mouse, rat WHSC1 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing WHSC1
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat WHSC1 Predesigned siRNA for gene silencing in human, mouse, rat WHSC1
     QuantiFast Probe-based Assays in human, mouse, rat WHSC1 QuantiTect SYBR Green Assays in human, mouse, rat WHSC1
     PCR Arrays including human, mouse, rat WHSC1 Search Chromatin IP Primers for WHSC1
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat WHSC1  GeneGlobe Interaction Network for WHSC1
     Regulatory tfbs in WHSC1 promoter
     GenScript Custom Purified and Recombinant Proteins Services for WHSC1 GenScript cDNA clones with any tag delivered in your preferred vector for WHSC1
     GenScript Custom Assay Services for WHSC1 GenScript Custom overexpressing Cell Line Services for WHSC1
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for WHSC1 (NSD2)
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     cDNA Clones for WHSC1
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     WHSC1 antibodies
     WHSC1 proteins
     WHSC1 lysates
     Antibodies for WHSC1
     See all of Abcam's Antibodies, Kits and Proteins for WHSC1
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for WHSC1
     Antibodies for WHSC1
     ELISAs for WHSC1
     CLIAs for WHSC1



     Browse ESI BIO Cell Lines and PureStem Progenitors for WHSC1
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for WHSC1
     Browse SwitchGear 3'UTR luciferase reporter plasmids for WHSC1
     SwitchGear Promoter luciferase reporter plasmids for WHSC1
     ThermoFisher Antibodies for WHSC1
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat WHSC1
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for WHSC1
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for WHSC1
     LSBio Antibodies in human, mouse, rat for WHSC1
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
     Search Addgene for plasmids for WHSC1
      Search eBioscience for proteins for WHSC1
      Search eBioscience for elisas for WHSC1
      eBioscience FlowRNA Probe Sets
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      WHSC1 gene at Home site.
    Version: 3.12.212 17 Sep 2014
    hostname: 356980-web2.xennexinc.com index build: 128 solr: 1.4